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Ontology Browser

Term:
neuronal ceroid lipofuscinosis (DOID:14503)
Annotations: Rat: (119) Mouse: (125) Human: (136) Chinchilla: (103) Bonobo: (105) Dog: (111) Squirrel: (104) Pig: (115)
Parent Terms Term With Siblings Child Terms
Alexander Disease  
Canavan disease  
Cephalin Lipidosis 
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
Cockayne syndrome +   
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
Dystonia Musculorum Deformans +   
Familial Amyloid Polyneuropathies +   
Familial Cardiac Lipidosis 
familial encephalopathy with neuroserpin inclusion bodies  
Farber lipogranulomatosis  
fatty liver disease +   
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
Kennedy's disease  
Lafora disease  
Leukoencephalomyelopathy  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
lysosomal and lipase deficiency +   
Mental Retardation, X-Linked +   
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
mucolipidosis +   
myotonia congenita +   
myotonic dystrophy type 1 +   
neuroacanthocytosis +   
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
Neurovisceral Storage Disease with Curvilinear Bodies 
neutral lipid storage disease +   
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Phospholipidosis  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
Progressive Psychomotor Deterioration  
Sjogren-Larsson syndrome +   
sphingolipidosis +   
spinal muscular atrophy with lower extremity predominance +   
Spongiform Encephalopathy with Neuropsychiatric Features  
syndromic microphthalmia 10 
Tremor of Intention, Ataxia, and Lipofuscinosis 
tuberous sclerosis +   
Unverricht-Lundborg syndrome +   
Wilson disease +   
xanthomatosis +   

Synonyms
Exact Synonyms: Amaurotic Idiocy, Adult Type ;   Batten Mayou Disease ;   Ceroid Lipofuscinosis, Neuronal 4 ;   Ceroid Storage Disease ;   Ceroid Storage Diseases ;   Infantile Neuronal Ceroid Lipofuscinosis ;   Jansky Bielschowsky Disease ;   Juvenile Cerebroretinal Degeneration ;   Juvenile Cerebroretinal Degenerations ;   Kuf Disease ;   Kuf's Diseases ;   Kuf's disease ;   Kufs Disease Autosomal Recessive ;   Kufs Type Neuronal Ceroid Lipofuscinosis ;   Kufs disease ;   Late-Infantile Neuronal Ceroid Lipofuscinosis ;   Lipofuscin Storage Disease ;   adult neuronal ceroid lipofuscinosis ;   hereditary ceroid lipofuscinosis ;   lipofuscin storage diseases ;   neuronal ceroid lipofuscinoses ;   neuronal ceroid lipofuscinosis, adult type
Narrow Synonyms: Neuronal ceroid lipofuscinosis, 12
Primary IDs: MESH:D009472
Alternate IDs: OMIA:001503 ;   OMIA:001552 ;   RDO:0003873
Xrefs: GARD:10739 ;   NCI:C61257 ;   OMIM:PS256730 ;   ORDO:216 ;   ORDO:79262
Definition Sources: MESH:D009472

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.